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Biomedical subjects

S Binder

Publications and source records attributed to S Binder.

15 recordsLinked to original sources

CRISPR/Cpf1-mediated knockout of FLG in human induced pluripotent stem cells generates a model for studying epidermal barrier dysfunction.

Loss of filaggrin (FLG) function impairs skin barrier formation and contributes to common inflammatory skin diseases. In this study, we established a FLG knockout human induced pluripotent stem cell (iPSC) line based on KOLF2.1 J using CRISPR/Cas12a (Cpf1)-mediated genome editing. A guide RNA targeting exon 2 introduced a homozygous mutation, which was confirmed by sequencing. The edited cells maintained typical pluripotent stem cell morphology, expressed key undifferentiated markers, and retained the ability to differentiate into all three germ layers. Karyotype and copy number variation (CNV) analyses confirmed genomic stability and parental origin; the cells were free of mycoplasma. This cell line enables studies of FLG-associated skin biology and pathology.

Humans

RNA editing in trans-splicing intron sequences of nad2 mRNAs in Oenothera mitochondria.

The complete open reading frame of subunit 2 of the NADH dehydrogenase in Oenothera mitochondria is split into five exons. The first two and the last three exons are encoded in distant genomic locations and are transcribed separately. Three tRNA genes coding for tRNA(Cys), tRNA(Asn), and tRNA(Tyr) are located upstream of the terminal three exons c, d, and e. The genomic distance, the interspersed tRNA genes, and the group II intron sequences flanking the two separated exons suggest trans-splicing to be required to connect exons b and c. Maturation of the mRNA includes RNA editing at 36 sites in the open reading frame. Three RNA editing events are observed in the split group II intron sequences. Two of these events allow after editing additional base pairings in the secondary structure, one in the stem of domain I, the other in the putative trans-pairing region of domain IV. These RNA editings may thus be involved in the trans-splicing reaction.

Amino Acid Sequence

Prevalence of radiographic evidence of paint chip ingestion among children with moderate to severe lead poisoning, St Louis, Missouri, 1989 through 1990.

Although experts once believed that ingesting chips of lead-based paint was the major cause of lead poisoning among children, conventional wisdom now holds that lead-contaminated dust and soil are the major routes of exposure. Data from a childhood lead-poisoning treatment clinic were examined to assess the frequency with which children ingest paint chips. For this study, the reports on abdominal radiographs of 90 children with moderate to severe lead poisoning who had received their first chelation treatment during 1989 or 1990 were reviewed. According to a radiologist's evaluation, 13 of 90 abdominal radiographs (14%; 95% confidence interval [CI] 7% to 22%) showed evidence of paint chip ingestion. Of 46 children with blood lead levels greater than or equal to 55 micrograms/dL, 12 (26%) had radiographs that showed paint chips, whereas only 1 (2%) of 44 children with blood lead levels less than 55 micrograms/dL had such radiographs (prevalence ratio = 11.5; 95% CI 1.6 to 84.6). The actual proportion of children with moderate to severe lead poisoning who have consumed leaded-paint chips is likely to be higher than this estimate based on radiographic evidence. While lead-contaminated dust is a major source of lead exposure, ingestion of leaded-paint chips clearly remains an important source of exposure among children with moderate to severe lead poisoning.

Acute Disease

Nucleotide sequences of the mitochondrial genes trnS(TGA) encoding tRNA(TGASer) in Oenothera berteriana and Arabidopsis thaliana.

The genes encoding tRNA(TGASer) have been investigated in the mitochondrial (mt) genomes of Oenothera berteriana and Arabidopsis thaliana. Sequence analysis shows four nucleotide (nt) differences between the two dicots, but only two differences between each dicot and the available monocot sequences. Similarity comparisons identify these genes as encoding a native mt tRNA(TGASer), with less than 77% of the nt identical to the corresponding chloroplast tRNAs.

Base Sequence

Evaluation of the erythrocyte protoporphyrin test as a screen for elevated blood lead levels.

To study the effect of lowering the definition of an elevated blood lead level on the performance of the erythrocyte protoporphyrin screening test and the number of children who would require follow-up, we collected laboratory data from a screening program. The estimated sensitivity of an erythrocyte protoporphyrin level greater than or equal to 35 micrograms/dl for identifying children with elevated blood lead levels was 73% when we used 1985 Centers for Disease Control guidelines (elevated blood lead level greater than or equal to 25 micrograms/dl). Eight percent of the tests showed positive results. When we redefined an elevated blood lead level as greater than or equal to 15 micrograms/dl, the sensitivity estimate was reduced to 37% and the number of positive test results increased fourfold.

Child, Preschool

[Echoculometry of the scleral buckle after retinal detachment surgery with and without subretinal drainage (author's transl)].

In a series of 32 eyes, the elevation of the scleral buckle was measured by means of A-scan echo-oculometry at the end of retinal detachment surgery, 6 and 10 h later, and 2, 3, 4, 8, 14, and 21 days after cryopexy and plombage with a 5 mm diameter silicon sponge. Subretinal drainage was applied in 50% of the cases. In more than 50% maximal indentation was found 2 days postoperatively; in less than 50%, 3 days postoperatively. Statistically significant, this maximum appeared earlier in cases with subretinal drainage than in cases without drainage. The highest elevation of the buckle persisted from one to two weeks and decreased during the third week.

Drainage

[The value of an outpatient clinic for patients with retinal detachment].

The article reports on an outpatient department for retinal detachment patients established since 1972 in the First Eye Clinic in Vienna. Of the 225 patients treated up to 1978, 19 had a relapse, 9 patients were subjected to prophylactic retinopexy in the tear area which had not coagulated sufficiently, whereas in 15 cases latent tears were found in healed eyes and in 17 cases in the second eye. In two patients, beginning detachment in the second eye was detected at an early stage, whereas in two cases detachment occurred despite continual control. The article underlines the usefulness of this outpatient section for clinical and research work.

Aftercare

[Massage of the bulb and intraocular pressure after goniotrepanation (author's transl)].

Intraocular pressure should be controlled via applanation tonometry, beginning with the fourth day after goniotrepanation, for a period of about three weeks, for early detection of postoperative pressure increases which can occur occasionally, so that they may be treated by digital massage of the bulb. This can be effective even in later post-operative pressure increases and support the effect of additional pressure-lowering treatment.

Eye

[Macular function after successful surgery of retinal detachment (author's transl)].

Following successful surgery 20 cases of retinal detachment with previous separation of the macular area were submitted to examination of visual acuity, colour perception and metamorphopsia. Improvement of visual acuity usually developed during the 12-week-period of supervision; this improvement was related to the preoperative duration of the detachment. The disturbance of colour sense was confined to the perception of yellow and blue, beeing independent of the duration of the retinal detachment; as a rule a tendency to improvement was found during the time of observation. Labile postoperative metamorphopsias were more pronounced in the spoke-test than in the Amsler-test. No evident connexions between the duration of retinal detachment and the intensity of metamorpoptic distortions could be found. In cases with retinal tears in the posterior segment cured with a high plombade effect stable visual distortions occurred in the Amsler-test only. Such distortions seem to be due to mechanical factors and cannot be considered real metamorphopsias.

Adult

[Ocular myopathy with giant mitochondriae (author's transl)].

A case of progressive external ophthalmoplegia and a slight coincident affection of the scapulohumeral muscle group is recorded. Thorough examination including EMG and biopsy from ocular and skeletal muscle tissue confirmed the clinical diagnosis of myopathy. By means of electron microscopy the affection could be identified as a type of myopathy characterized by giant mitochondriae. Causative factors were not detectable. The function of the thyroid and the carnitine level in the muscle tissue and blood serum were normal.

Biopsy

[The efficacy of Piracetam on the mental functional capacity of chronic alcoholics (author's transl)].

Piracetam, 1-pyrrolidone acetamid, was tested in 40 chronic alcoholics with a more or less marked psycho-organic syndrome by means of psychological tests. It was a double-blind-cross-over study. Statistical analysis of the results showed that Piracetam improves the energo-functional capacity of the cortex i.e. the basal functions of the cortical cells such as activating capacity, vital dynamic, flexibility, intellectual reactivity and stress tolerance. Apart from the overall improvement we also observed an improvement of specific cerebral performances which is however unimportant in comparison with the greneralized effect.

Alcoholism